SNP Links for Protein (Select 193290160) - SNP

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Links from Protein

Items: 1 to 20 of 367

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Select item 14881468481.

rs1488146848 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:144185718 (GRCh38)
7:143882811 (GRCh37)
Canonical SPDI:: NC_000007.14:144185717:C:G,NC_000007.14:144185717:C:T
Gene:: ARHGEF35 (Varview), CTAGE4 (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,coding_sequence_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000049/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.144185718C>G, NC_000007.14:g.144185718C>T, NC_000007.13:g.143882811C>G, NC_000007.13:g.143882811C>T, NW_018654715.1:g.140283C>G, NW_018654715.1:g.140283C>T, NM_198495.3:c.2215C>G, NM_198495.3:c.2215C>T, NM_198495.2:c.2215C>G, NM_198495.2:c.2215C>T, NP_940897.2:p.Pro739Ala, NP_940897.2:p.Pro739Ser

Select item 14876296832.

rs1487629683 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:144184564 (GRCh38)
7:143881657 (GRCh37)
Canonical SPDI:: NC_000007.14:144184563:A:G
Gene:: CTAGE4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00008/1 (ALFA)
G=0.00015/2 (GnomAD)
HGVS:: NC_000007.14:g.144184564A>G, NC_000007.13:g.143881657A>G, NW_018654715.1:g.139129A>G, NM_198495.3:c.1061A>G, NM_198495.2:c.1061A>G, NP_940897.2:p.Glu354Gly

Select item 14863806323.

rs1486380632 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:144184991 (GRCh38)
7:143882084 (GRCh37)
Canonical SPDI:: NC_000007.14:144184990:A:T
Gene:: CTAGE4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.144184991A>T, NC_000007.13:g.143882084A>T, NW_018654715.1:g.139556A>T, NM_198495.3:c.1488A>T, NM_198495.2:c.1488A>T, NP_940897.2:p.Lys496Asn

Select item 14861576024.

rs1486157602 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 7:144185758 (GRCh38)
7:143882851 (GRCh37)
Canonical SPDI:: NC_000007.14:144185757:T:A,NC_000007.14:144185757:T:C
Gene:: ARHGEF35 (Varview), CTAGE4 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.144185758T>A, NC_000007.14:g.144185758T>C, NC_000007.13:g.143882851T>A, NC_000007.13:g.143882851T>C, NW_018654715.1:g.140323T>A, NW_018654715.1:g.140323T>C, NM_198495.3:c.2255T>A, NM_198495.3:c.2255T>C, NM_198495.2:c.2255T>A, NM_198495.2:c.2255T>C, NP_940897.2:p.Met752Lys, NP_940897.2:p.Met752Thr

Select item 14860880455.

rs1486088045 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:144184082 (GRCh38)
7:143881175 (GRCh37)
Canonical SPDI:: NC_000007.14:144184081:C:T
Gene:: CTAGE4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.144184082C>T, NC_000007.13:g.143881175C>T, NW_018654715.1:g.138647C>T, NM_198495.3:c.579C>T, NM_198495.2:c.579C>T

Select item 14860543756.

rs1486054375 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 7:144185591 (GRCh38)
7:143882685 (GRCh37)
Canonical SPDI:: NC_000007.14:144185591:CC:CCC
Gene:: ARHGEF35 (Varview), CTAGE4 (Varview)
Functional Consequence:: downstream_transcript_variant,frameshift_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0./0 (ALFA)
HGVS:: NC_000007.14:g.144185593dup, NC_000007.13:g.143882686dup, NW_018654715.1:g.140158dup, NM_198495.3:c.2090dup, NM_198495.2:c.2090dup, NP_940897.2:p.Leu698fs

Select item 14779742397.

rs1477974239 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:144185080 (GRCh38)
7:143882173 (GRCh37)
Canonical SPDI:: NC_000007.14:144185079:T:C
Gene:: CTAGE4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.144185080T>C, NC_000007.13:g.143882173T>C, NW_018654715.1:g.139645T>C, NM_198495.3:c.1577T>C, NM_198495.2:c.1577T>C, NP_940897.2:p.Leu526Ser

Select item 14759800488.

rs1475980048 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:144184312 (GRCh38)
7:143881405 (GRCh37)
Canonical SPDI:: NC_000007.14:144184311:C:A
Gene:: CTAGE4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000007.14:g.144184312C>A, NC_000007.13:g.143881405C>A, NW_018654715.1:g.138877C>A, NM_198495.3:c.809C>A, NM_198495.2:c.809C>A, NP_940897.2:p.Thr270Asn

Select item 14759162059.

rs1475916205 [Homo sapiens]

Variant type:: DELINS
Alleles:: AACTCTTCCTC>- [Show Flanks]
Chromosome:: 7:144185360 (GRCh38)
7:143882453 (GRCh37)
Canonical SPDI:: NC_000007.14:144185357:TCAACTCTTCCTC:TC
Gene:: CTAGE4 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: TC=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.144185360_144185370del, NC_000007.13:g.143882453_143882463del, NW_018654715.1:g.139925_139935del, NM_198495.3:c.1857_1867del, NM_198495.2:c.1857_1867del, NP_940897.2:p.Leu621fs

Select item 147530286710.

rs1475302867 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:144185259 (GRCh38)
7:143882352 (GRCh37)
Canonical SPDI:: NC_000007.14:144185258:G:A,NC_000007.14:144185258:G:C
Gene:: CTAGE4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000007.14:g.144185259G>A, NC_000007.14:g.144185259G>C, NC_000007.13:g.143882352G>A, NC_000007.13:g.143882352G>C, NW_018654715.1:g.139824G>A, NW_018654715.1:g.139824G>C, NM_198495.3:c.1756G>A, NM_198495.3:c.1756G>C, NM_198495.2:c.1756G>A, NM_198495.2:c.1756G>C, NP_940897.2:p.Asp586Asn, NP_940897.2:p.Asp586His

Select item 147457492111.

rs1474574921 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:144184545 (GRCh38)
7:143881638 (GRCh37)
Canonical SPDI:: NC_000007.14:144184544:A:T
Gene:: CTAGE4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00093/11 (ALFA)
T=0.00011/2 (GnomAD)
T=0.0004/1 (KOREAN)
HGVS:: NC_000007.14:g.144184545A>T, NC_000007.13:g.143881638A>T, NW_018654715.1:g.139110A>T, NM_198495.3:c.1042A>T, NM_198495.2:c.1042A>T, NP_940897.2:p.Thr348Ser

Select item 147121865612.

rs1471218656 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:144185427 (GRCh38)
7:143882520 (GRCh37)
Canonical SPDI:: NC_000007.14:144185426:C:A,NC_000007.14:144185426:C:T
Gene:: CTAGE4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.00026/4 (TOMMO)
HGVS:: NC_000007.14:g.144185427C>A, NC_000007.14:g.144185427C>T, NC_000007.13:g.143882520C>A, NC_000007.13:g.143882520C>T, NW_018654715.1:g.139992C>A, NW_018654715.1:g.139992C>T, NM_198495.3:c.1924C>A, NM_198495.3:c.1924C>T, NM_198495.2:c.1924C>A, NM_198495.2:c.1924C>T, NP_940897.2:p.Pro642Thr, NP_940897.2:p.Pro642Ser

Select item 146857374013.

rs1468573740 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:144184299 (GRCh38)
7:143881392 (GRCh37)
Canonical SPDI:: NC_000007.14:144184298:A:G
Gene:: CTAGE4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.144184299A>G, NC_000007.13:g.143881392A>G, NW_018654715.1:g.138864A>G, NM_198495.3:c.796A>G, NM_198495.2:c.796A>G, NP_940897.2:p.Ile266Val

Select item 146838271814.

rs1468382718 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:144184568 (GRCh38)
7:143881661 (GRCh37)
Canonical SPDI:: NC_000007.14:144184567:T:C
Gene:: CTAGE4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000007.14:g.144184568T>C, NC_000007.13:g.143881661T>C, NW_018654715.1:g.139133T>C, NM_198495.3:c.1065T>C, NM_198495.2:c.1065T>C

Select item 146787745515.

rs1467877455 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:144184285 (GRCh38)
7:143881378 (GRCh37)
Canonical SPDI:: NC_000007.14:144184284:A:T
Gene:: CTAGE4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000312/2 (1000Genomes)
HGVS:: NC_000007.14:g.144184285A>T, NC_000007.13:g.143881378A>T, NW_018654715.1:g.138850A>T, NM_198495.3:c.782A>T, NM_198495.2:c.782A>T, NP_940897.2:p.Asp261Val

Select item 146742601116.

rs1467426011 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 7:144185505 (GRCh38)
7:143882598 (GRCh37)
Canonical SPDI:: NC_000007.14:144185504:G:
Gene:: CTAGE4 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by cluster
HGVS:: NC_000007.14:g.144185505del, NC_000007.13:g.143882598del, NW_018654715.1:g.140070del, NM_198495.3:c.2002del, NM_198495.2:c.2002del, NP_940897.2:p.Ala668fs

Select item 146351282917.

rs1463512829 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:144185481 (GRCh38)
7:143882574 (GRCh37)
Canonical SPDI:: NC_000007.14:144185480:G:A,NC_000007.14:144185480:G:T
Gene:: CTAGE4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.144185481G>A, NC_000007.14:g.144185481G>T, NC_000007.13:g.143882574G>A, NC_000007.13:g.143882574G>T, NW_018654715.1:g.140046G>A, NW_018654715.1:g.140046G>T, NM_198495.3:c.1978G>A, NM_198495.3:c.1978G>T, NM_198495.2:c.1978G>A, NM_198495.2:c.1978G>T, NP_940897.2:p.Glu660Lys, NP_940897.2:p.Glu660Ter

Select item 146337388518.

rs1463373885 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:144185724 (GRCh38)
7:143882817 (GRCh37)
Canonical SPDI:: NC_000007.14:144185723:G:A,NC_000007.14:144185723:G:T
Gene:: ARHGEF35 (Varview), CTAGE4 (Varview)
Functional Consequence:: missense_variant,500B_downstream_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.144185724G>A, NC_000007.14:g.144185724G>T, NC_000007.13:g.143882817G>A, NC_000007.13:g.143882817G>T, NW_018654715.1:g.140289G>A, NW_018654715.1:g.140289G>T, NM_198495.3:c.2221G>A, NM_198495.3:c.2221G>T, NM_198495.2:c.2221G>A, NM_198495.2:c.2221G>T, NP_940897.2:p.Asp741Asn, NP_940897.2:p.Asp741Tyr

Select item 146090059519.

rs1460900595 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:144184305 (GRCh38)
7:143881398 (GRCh37)
Canonical SPDI:: NC_000007.14:144184304:A:C
Gene:: CTAGE4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000007.14:g.144184305A>C, NC_000007.13:g.143881398A>C, NW_018654715.1:g.138870A>C, NM_198495.3:c.802A>C, NM_198495.2:c.802A>C, NP_940897.2:p.Thr268Pro

Select item 145447921820.

rs1454479218 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:144183512 (GRCh38)
7:143880605 (GRCh37)
Canonical SPDI:: NC_000007.14:144183511:G:A
Gene:: CTAGE4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000007.14:g.144183512G>A, NC_000007.13:g.143880605G>A, NW_018654715.1:g.138077G>A, NM_198495.3:c.9G>A, NM_198495.2:c.9G>A